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An Introduction to Assessing Genomic Screening and Diagnostic Tests

Abstract

This article describes a genomic test assessment framework for evaluating, interpreting, and reporting genomic data. The framework contains 5 components, the first of which requires that the medical disorder be specified, along with the test(s) used for detecting the disorder and the clinical setting in which testing is to be offered. Then, 4 aspects of test performance are examined: Analytic validity, Clinical validity, Clinical utility, and Ethical, legal, and social issues (abbreviated as ACCE). Each section contains specific questions that can be applied to a wide variety of genomic screening and diagnostic tests, including those that might be used for estimating risks for future health disorders. Assessing such tests systematically is especially important at present, because definitive studies are often unavailable to determine whether knowledge of specified genotypes will be more effective in improving health than knowledge gained from existing practice. Often, for example, a genotype that is shown to be a valid risk factor for a common problem such as heart disease will mistakenly be considered to have clinical utility when converted into a screening test. Understanding the performance characteristics of a genomic test is of special concern when it is advocated for widespread application, such as population-based screening, because of the potential for generating false expectations and wasting resources that might be better invested elsewhere. Although initially designed to provide policymakers with up-to-date and reliable information for decision making, the ACCE framework is user-friendly to individual health professionals, who can apply the questions to any test being promoted in their field to assess clinical validity and utility. Subsequent to preliminary applications in a feasibility study, aspects of this assessment framework have been incorporated into the methods of the Evaluation of Genomic Applications in Practice and Prevention Working Group, established by the Office of Public Health Genomics at the Centers for Disease Control and Prevention. The Evaluation of Genomic Applications in Practice and Prevention Working Group issues recommendations about the suitability of new genetic tests for use in everyday practice, based on commissioned evidence reviews, and serves as an added resource to health professionals

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